Familial dysautonomia (FD) is an inherited disorder that affects nerves throughout the body.
Riley-Day syndrome; FD; Hereditary sensory and autonomic neuropathy - type III (HSAN III); Autonomic crises - familial dysautonomia
FD is passed down through families (inherited). A person must inherit a copy of the defective gene from each parent to develop the condition.
FD occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused by a change (mutation) to a gene. It is rare in the general population.
FD affects the nerves in the autonomic (involuntary) nervous system. These nerves manage daily body functions such as blood pressure, heart rate, sweating, bowel and bladder emptying, digestion, and the senses.
Symptoms of FD are present at birth and may grow worse over time. Symptoms vary, and may include:
After 3 years old, most children develop autonomic crises. These are episodes of vomiting with very high blood pressure, racing heart, fever, and sweating.
Exams and Tests
The health care provider will do a physical exam to look for:
Blood tests are available to check for the gene mutation that causes FD.
FD can't be cured. Treatment is aimed at managing the symptoms and may include:
These organizations can provide support and more information:
Advances in diagnosis and treatment are increasing the survival rate. About half of babies born with FD will live to age 30.
When to Contact a Medical Professional
Call your provider if symptoms change or get worse. A genetic counselor can help teach you about the condition and direct you to support groups in your area.
Genetic DNA testing is very accurate for FD. It may be used for diagnosing people with the condition or those who carry the gene. It can also be used for prenatal diagnosis.
People of Eastern European Jewish background and families with a history of FD may wish to seek genetic counseling if they are thinking of having children.
Katirji B. Disorders of peripheral nerves. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 107.
Sarnat HB. Autonomic neuropathies. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 615.
Wapner RJ. Prenatal diagnosis of congenital disorders. In: Creasy RK, Resnik R, Iams JD, Lockwood CJ, Moore TR, Greene MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30.
Review Date: 10/30/2016
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. 02-05-18: Editorial Update.
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